P7L (p.Pro7Leu) variant of NLGN3 (Neuroligin-3)
P7L (p.Pro7Leu) in NLGN3 (Neuroligin-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- rs199925687
- ClinGen CA241764
- ClinVar RCV000175914
- 1000Genomes rs199925687
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0679
- REVEL 0.07
- CADD 1.35
- PolyPhen-2 0.00
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.013)
- Structural context available